#Japan #Tokyo #Pendred Syndrome #ZENPE #Vestibular Ectasia

Celebrating ZENPE's First Anniversary

On May 2025, ZENPE (the Association for Vestibular Aqueduct Enlargement and Pendred Syndrome) was established in Tokyo, Japan. This non-profit, led by Miwa Oshima, is advocating for awareness and appropriate resources for rare hereditary hearing disorders that are often overlooked even by medical professionals. The organization recently celebrated its first anniversary, marking significant steps towards a future that eliminates the “Three Zeros”: zero information, zero treatment options, and zero recognition as a designated disease.

The Lack of Information on Rare Disorders

Vestibular aqueduct enlargement and Pendred syndrome are genetic conditions linked to malformations of the inner ear, leading to progressive hearing loss and balance issues. Unfortunately, due to limited specialists across the country, many individuals with these conditions find themselves without a diagnosis for years. Some patients endure years of uncertainty, with their symptoms unrecognized until their mid-fifties. This glaring gap in medical awareness left many in despair, with quotes from affected individuals highlighting the need for better understanding:

• - "When I visited an ENT specialist, they said they had never heard of such a condition."
• - "Even major hospitals refused to treat me, leaving me lost on where to go next."
• - "Living in Tokyo, I still felt like a medical orphan. If I had known earlier, I could have received help sooner..."

A Year of Activism

Since its founding, ZENPE has been actively promoting awareness and understanding of these disorders:

• - May 2025: The NPO was established with advisory doctors, including Tatsuya Matsunaga, Masato Fujioka, and Yukiko Seto, onboard.
• - August 2025: The organization presented a policy proposal to lawmakers to designate Pendred syndrome as a chronic childhood illness.
• - September 2025: ZENPE won the 'Shining Life Encouragement Award' from the National Network for Support of Children with Rare Diseases.
• - October 2025: The first hosted lecture by advisory physician, Dr. Tatsuya Matsunaga, took place.

Addressing the Three Zeros

ZENPE has centered its mission on tackling the “Three Zeros”:
1. Zero Information: There is a severe lack of general information regarding these conditions. To combat this, ZENPE has introduced a web media platform supervised by doctors, sharing stories, experiences, and practical information to support families navigating this journey.
2. Zero Treatment Options: Currently, there are no definitive treatments or medications available for these disorders. However, ZENPE is working on establishing a patient database to foster collaboration with medical and research institutions to pave the way for future treatment development.
3. Zero Recognition: Unable to secure a designated status for financial aid, ZENPE continues to advocate for policy changes to ensure these conditions receive necessary support in medical aid and research funding.

Future Initiatives

As 2026 approaches, ZENPE has laid out ambitious goals for its second year:

• - Develop a National Medical Network: By compiling a list of doctors and hospitals that can treat these conditions, ZENPE aims to connect patients with the right medical care promptly.
• - Community Expansion: Fostering connections among families facing similar challenges is a priority. ZENPE plans to broaden its community outreach to ensure no family feels isolated.

A Message from the Representative

Miwa Oshima expressed her reflections on the past year, recognizing the alarming lack of societal awareness regarding Pendred syndrome and Vestibular aqueduct enlargement. She noted the prolonged journeys many families undergo to find answers and support. Despite being a small organization, ZENPE is driven by feedback from the community expressing gratitude for companionship and information. Oshima emphasized the organization’s commitment to reducing the suffering caused by ignorance about these rare conditions, underscoring the hope that ZENPE can inspire change for families affected by these disorders.

Organization Overview

• - Organization Name: NPO法人 前庭水管拡大症・ペンドレッド症候群の会 (ZENPE)
• - Founded: May 2025
• - Representative: Miwa Oshima
• - Location: Ota, Tokyo
• - Website: zenpe.jp
• - Instagram: zenpe_home
• - Contact: [email protected]

In summary, ZENPE is dedicated to dismantling the barriers faced by individuals with rare hearing disorders and aspires to create a future where knowledge and resources are abundant.

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